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Hirschsprung disease

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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28803163/-hirschsprung-associated-enterocolitis-observational-study-in-a-paediatric-emergency-care-unit
#2
Margarita Sellers, Clara Udaondo, Bárbara Moreno, Gonzalo Martínez-Alés, Jesús Díez, Leopoldo Martínez, María de Ceano-Vivas
INTRODUCTION: Hirschsprung-associated enterocolitis is a significant cause of morbidity and mortality in infants with Hirschsprung's disease. The fact that the symptoms are so variable and unspecific leads to a slow or incorrect diagnosis. The purpose of this study is to identify clinical factors associated with the diagnosis, as well as to evaluate the subsequent management of children with suspected Hirschsprung-associated enterocolitis in a paediatric emergency department. MATERIAL AND METHODS: A retrospective descriptive study was conducted on patients with Hirschsprung's disease who were seen in a paediatric emergency department between April 2011 and November 2015 due to clinical symptoms compatible with enterocolitis...
August 9, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28799195/sacral-nerve-stimulation-for-constipation-and-fecal-incontinence-in-children-long-term-outcomes-patient-benefit-and-parent-satisfaction
#3
P L Lu, I J N Koppen, D K Orsagh-Yentis, K Leonhart, E J Ambeba, K J Deans, P C Minneci, S Teich, K A Diefenbach, S A Alpert, M A Benninga, D Yacob, C Di Lorenzo
OBJECTIVE: To evaluate the long-term efficacy of sacral nerve stimulation (SNS) in children with constipation and describe patient benefit and parent satisfaction. METHODS: Using a prospective patient registry, we identified patients <21 years old with constipation treated with SNS for >2 years. We compared symptoms, medical treatment, PedsQL Gastrointestinal Symptom Scale (GSS), Fecal Incontinence Quality of Life Scale (FIQL), and Fecal Incontinence Severity Index (FISI) before SNS and at follow-up...
August 10, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28799054/identification-of-a-novel-variant-of-the-ret-proto-oncogene-in-a-novel-family-with-hirschsprung-s-disease
#4
Takafumi Kawano, Kazuyoshi Hosomichi, Ituro Inoue, Ryuichi Shimono, Shun Onishi, Kazuhiko Nakame, Tatsuru Kaji, Hiroshi Matsufuji, Satoshi Ieiri
PURPOSE: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach's and Meissner's plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. METHODS: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer...
August 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28760457/critical-evaluation-of-the-hirschsprung-associated-enterocolitis-haec-score-a-multicenter-study-of-116-children-with-hirschsprung-disease
#5
Philip K Frykman, Sungjin Kim, Tomas Wester, Agneta Nordenskjöld, Akemi Kawaguchi, Thomas T Hui, Daniel H Teitelbaum, Anna L Granström, Andre Rogatko
OBJECTIVE: To identify the optimal clinical criteria to diagnose Hirschsprung-associated enterocolitis (HAEC) in children with Hirschsprung disease (HSCR). BACKGROUND: HAEC is the most common life-threatening complication in HSCR patients, yet the diagnostic criteria for HAEC remain unclear. The consensus-based HAEC scoring system was not validated using patient data, thereby making its diagnostic accuracy uncertain. METHODS: From 2009 to 2015, consecutive children with HSCR underwent retrospective evaluation of their medical records, and questionnaire-directed parent interviews to identify treatment of suspected HAEC episodes and the 16 clinical criteria in the HAEC score...
July 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28755898/comparison-of-hirschsprung-associated-enterocolitis-following-soave-and-duhamel-procedures
#6
Isidora Galuh Parahita, Akhmad Makhmudi, Gunadi
BACKGROUND: Hirschsprung-associated enterocolitis (HAEC) represents the primary cause of high morbidity and mortality in Hirschsprung disease (HSCR) patients. The most common surgical methods for HSCR are the Soave and Duhamel procedures. Therefore, we aimed to compare the HAEC frequency following the Soave and Duhamel procedures. METHODS: Medical records were retrospectively analyzed for patients who underwent the Soave and Duhamel pull-through at Dr. Sardjito Hospital, Indonesia from 2010 to 2015...
July 17, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28747558/downregulation-of-lncrna-meg3-and-mir-770-5p-inhibit-cell-migration-and-proliferation-in-hirschsprung-s-disease
#7
Hongxing Li, Bo Li, Dongmei Zhu, Hua Xie, Chunxia Du, Yankai Xia, Weibing Tang
The long noncoding RNA (lncRNA) MEG3 is involved in various biological processes including cell migration and cell proliferation. In present study, it was found that MEG3 and the intronic miR-770-5p were decreased in samples from HSCR patients. Besides, knockdown of MEG3 and miR-770-5p suppressed cell migration and proliferation, while cell cycle and apoptosis were not affected in human 293T and SH-SY5Y cells. SRGAP1 mRNA and protein upregulation was inversely correlated with miR-770-5p expression in tissue samples and cell lines, which was confirmed to be a target gene of miR-770-5p by dual-luciferase reporter assay...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28740121/overexpression-of-dnmt3b-target-genes-during-enteric-nervous-system-development-contribute-to-the-onset-of-hirschsprung-disease
#8
Leticia Villalba-Benito, Ana Torroglosa, Raquel María Fernández, Macarena Ruíz-Ferrer, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Hirschsprung disease (HSCR) is attributed to a failure of neural crest cells (NCCs) to migrate, proliferate, differentiate and/or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. ENS formation is the result from a specific gene expression pattern regulated by epigenetic events, such DNA methylation by the DNA methyltransferases (DNMTs), among other mechanisms. Specifically, DNMT3b de novo methyltransferase is associated with NCCs development and has been shown to be implicated in ENS formation and in HSCR...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28738437/long-term-outcomes-and-quality-of-life-in-patients-after-soave-pull-through-operation-for-hirschsprung-s-disease-an-observational-retrospective-study
#9
Viet Quoc Tran, Tania Mahler, Martine Dassonville, Dinh Quang Truong, Annie Robert, Philippe Goyens, Henri Steyaert
No abstract text is available yet for this article.
July 24, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28737964/laparoscopic-duhamel-procedure-with-ex-anal-rectal-transection-for-right-sided-hirschsprung-s-disease
#10
Xi Zhang, Li Yang, Shao-Tao Tang, Guo-Qing Cao, Shuai Li, Meng Jiang, Meng Xiong, De-Hua Yang, Xiao-Pan Chang, Kang Li, Ya-Zhen Ma
BACKGROUND: Increased defecation frequency and soiling are common complications of surgery for right-sided Hirschsprung's disease (HD). Though the laparoscopic Duhamel procedure is a favorable option in right-sided HD, the conventional laparoscopic technique is time consuming and has complications that are associated with the reservoir. In this study, we described a modified laparoscopic Duhamel technique with ex-anal rectal transection combined with the Deloyer's procedure for right-sided HD...
July 24, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/28727975/appendicular-biopsy-in-total-colonic-aganglionosis-a-histologically-challenging-and-inadvisable-practice
#11
Suravi Mohanty, Usha Kini, Kanishka Das, Divya Puttegowda, Lokendra Yadav, Manjally Kunjipapu Babu, Kiran Mahadevappa, Prasanna Kumar, Shubha Attibele Mahadevaiah, Mainak Deb
Background The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. Objective To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung disease (HD) and TCA. Methods Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#12
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28706618/isolated-ileal-perforation-in-infancy-a-lethal-initial-presentation-of-hirschsprung-s-disease
#13
Fadi Iskandarani, Chawki Hammoud, Sarah Srour, Gloria Pelizzo, Ghassan Nakib, Valeria Calcaterra, Amir Khanafer
Arare case of ileal perforation, as a fatal initial presentation of total colonic aganglionosis (TCA) in infancy is reported. A 10-week-old boy, was brought to the emergency department with symptoms of complicated intestinal obstruction. He looked ill, was lethargic, markedly dehydrated and had a severely distended abdomen. An abdominal X-ray revealed multiple air fluid levels seen in a distended small intestine. During exploratory laparotomy the ileum was massively dilated with distal segment perforation. Ileal perforation repair was performed...
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28689885/reduction-of-hydrogen-sulfide-synthesis-enzymes-cystathionine-%C3%AE-synthase-and-cystathionine-%C3%AE-lyase-in-the-colon-of-patients-with-hirschsprungs-s-disease
#14
Christian Tomuschat, Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Hirschsprung's associated enterocolitis (HAEC) is the most common cause of morbidity and mortality in Hirschsprung's Disease (HSCR). The pathogenesis of HAEC is poorly understood. In recent years, there is increasing evidence that a compromised intestinal barrier function plays a major role in the pathogenesis of HAEC. Hydrogen sulfide, synthesized from L-cysteine by two key enzymes, cystathionine-β-synthase (CBS) and cystathionine-γ-lysase (CSE) is reported to play a key role in regulating gastrointestinal motility and promoting resolution of inflammation...
June 23, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#15
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28681569/diagnostic-use-of-endoscopic-full-thickness-wall-resection-eftr-a-novel-minimally-invasive-technique-for-colonic-tissue-sampling-in-patients-with-severe-gastrointestinal-motility-disorders
#16
P V Valli, D Pohl, M Fried, R Caduff, P Bauerfeind
BACKGROUND: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis...
July 6, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28674948/transitional-health-care-for-patients-with-hirschsprung-disease-and-anorectal-malformations
#17
M J Witvliet, N Petersen, E Ekkerman, C Sleeboom, E van Heurn, A F W van der Steeg
BACKGROUND: Hirschsprung disease (HD) and anorectal malformations (ARM) are congenital disorders with potentially lifelong consequences. Although follow-up is performed in most pediatric patients, transfer to adult health care is often problematic. This study assesses transitional care with the help of questionnaires in consultation with adult patients. METHODS: This study was conducted in an outpatient clinic of a pediatric surgical center in the Netherlands. All patients born and treated for ARM or HD before 1992 were invited to visit our clinic...
July 3, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28664405/potential-association-between-itpkc-genetic-variations-and-hirschsprung-disease
#18
Jeong-Hyun Kim, Soo-Min Jung, Joong-Gon Shin, Hyun Sub Cheong, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Hyun-Young Kim, Kyuwhan Jung, Hyoung Doo Shin
Hirschsprung disease (HSCR) is a congenital and complex disorder characterized by intestinal obstruction due to the absence of enteric neurons along variable lengths of the hindgut. Our recent genome-wide association study (GWAS) has revealed regional associations with HSCR at several loci of inositol-trisphosphate 3-kinase C (ITPKC). For fine mapping, we additionally selected and genotyped a total of 12 single nucleotide polymorphisms (SNPs) of ITPKC in 187 HSCR patients and 283 unaffected controls, and performed a further combined imputation analysis based on genotype data from this second stage of fine mapping and our previous GWAS stage, totaling 902 subjects (187 HSCR cases and 715 controls)...
July 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28660833/novel-technique-of-mapping-biopsies-during-laparoscopic-assisted-transanal-soave-endorectal-pull-through-surgery-for-hirschsprung-s-disease-s
#19
A D Ram, D W Scholfield, A Pimpalwar
No abstract text is available yet for this article.
July 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28657908/idiopathic-megacolon-report-of-2-deaths-with-review-of-the-literature
#20
Leigh Hlavaty, LokMan Sung
Abnormal dilation of the colon and rectum can develop from a range of disease processes. When encountered at autopsy, its contribution to death requires assessment and a thorough investigation of its origins. Elimination of known causes elicits a diagnosis of idiopathic megacolon. This entity is uncommonly encountered and presents with similar gross anatomic findings as Hirschsprung disease. Although death is infrequent, it most commonly results from disruption of the bowel wall and subsequent peritonitis. The authors report 2 rare deaths from idiopathic megacolon with retained integrity of the bowel wall...
September 2017: American Journal of Forensic Medicine and Pathology
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